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DO Term : xeroderma pigmentosum variant type [DOID:0110847] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1.

synonyms:
XPV,
278750,
photosensitivity with defective DNA synthesis,
OMIM:278750,
xeroderma pigmentosum with normal DNA repair rates,
GARD:5630,
ICD10CM:Q82.1,
MESH:C536766

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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